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Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00798
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- Publication type:
- Article
Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine.
- Published in:
- Journal of Pathology, 2019, v. 247, n. 5, p. 574, doi. 10.1002/path.5229
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- Publication type:
- Article
Pancreatic cancer as a sentinel for hereditary cancer predisposition.
- Published in:
- 2018
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- Publication type:
- journal article
FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1532
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- Publication type:
- Article
Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series.
- Published in:
- Journal of Human Genetics, 2002, v. 47, n. 12, p. 641, doi. 10.1007/s100380200099
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- Publication type:
- Article
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.
- Published in:
- Nature Biotechnology, 2014, v. 32, n. 7, p. 663, doi. 10.1038/nbt.2895
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- Publication type:
- Article
A candidate prostate cancer susceptibility gene at chromosome 17p.
- Published in:
- Nature Genetics, 2001, v. 27, n. 2, p. 172, doi. 10.1038/84808
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- Publication type:
- Article
Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z.
- Published in:
- BMC Molecular Biology, 2005, v. 6, p. 1, doi. 10.1186/1471-2199-6-12
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- Publication type:
- Article
RAD51 and Breast Cancer Susceptibility: No Evidence for Rare Variant Association in the Breast Cancer Family Registry Study.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052374
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- Publication type:
- Article
Design Considerations for Massively Parallel Sequencing Studies of Complex Human Disease.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023221
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- Publication type:
- Article
Hepatocellular Carcinoma Displays Distinct DNA Methylation Signatures with Potential as Clinical Predictors.
- Published in:
- PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009749
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- Publication type:
- Article
Tests of association for rare variants: case control mutation screening.
- Published in:
- 2011
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- Publication type:
- commentary
Confirmation of the HPCX prostate cancer predisposition locus in large Utah prostate cancer pedigrees.
- Published in:
- Human Genetics, 2005, v. 116, n. 3, p. 179, doi. 10.1007/s00439-004-1220-9
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- Publication type:
- Article
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 820, doi. 10.1038/ejhg.2008.13
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- Publication type:
- Article
FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets.
- Published in:
- BMC Bioinformatics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2105-14-65
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- Publication type:
- Article
Phenotypic analysis of human glioma cells expressing the MMAC1 tumor suppressor phosphatase.
- Published in:
- Oncogene, 1999, v. 18, n. 6, p. 1261, doi. 10.1038/sj.onc.1202441
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- Publication type:
- Article
Characterization of a carboxy-terminal BRCA1 interacting protein.
- Published in:
- Oncogene, 1998, v. 17, n. 18, p. 2279, doi. 10.1038/sj.onc.1202150
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- Publication type:
- Article
Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods.
- Published in:
- Nucleic Acids Research, 2006, v. 34, n. 5, p. 1317, doi. 10.1093/nar/gkj518
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- Publication type:
- Article
Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.
- Published in:
- 2014
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- Publication type:
- journal article
Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.
- Published in:
- Breast Cancer Research, 2011, v. 13, n. 1, p. 1, doi. 10.1186/bcr2810
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- Publication type:
- Article
Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2.
- Published in:
- BMC Medical Genomics, 2011, v. 4, n. 1, p. 39, doi. 10.1186/1755-8794-4-39
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- Publication type:
- Article
Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus.
- Published in:
- BMC Genetics, 2009, v. 10, p. 1, doi. 10.1186/1471-2156-10-5
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- Publication type:
- Article
Functional Impact of Missense Variants in BRCA1 Predicted by Supervised Learning.
- Published in:
- PLoS Computational Biology, 2007, v. 3, n. 2, p. 268, doi. 10.1371/journal.pcbi.0030026
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- Publication type:
- Article
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 8, p. 724, doi. 10.1093/hmg/ddae009
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- Publication type:
- Article
A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 6, p. 943, doi. 10.1111/cge.13757
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- Publication type:
- Article
Mobile element insertions and associated structural variants in longitudinal breast cancer samples.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-92444-0
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- Publication type:
- Article
ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry.
- Published in:
- PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0156820
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- Publication type:
- Article
First international workshop of the ATM and cancer risk group (4-5 December 2019).
- Published in:
- Familial Cancer, 2022, v. 21, n. 2, p. 211, doi. 10.1007/s10689-021-00248-y
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- Publication type:
- Article
Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.
- Published in:
- Genes, Chromosomes & Cancer, 2006, v. 45, n. 12, p. 1169
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- Publication type:
- Article
A calibrated cell‐based functional assay to aid classification of MLH1 DNA mismatch repair gene variants.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2295, doi. 10.1002/humu.24462
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- Publication type:
- Article
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy.
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- Human Mutation, 2021, v. 42, n. 10, p. 1351, doi. 10.1002/humu.24264
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- Publication type:
- Article
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines.
- Published in:
- Human Mutation, 2020, v. 41, n. 10, p. 1734, doi. 10.1002/humu.24088
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- Publication type:
- Article
A quantitative model to predict pathogenicity of missense variants in the TP53 gene.
- Published in:
- Human Mutation, 2019, v. 40, n. 6, p. 788, doi. 10.1002/humu.23739
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- Publication type:
- Article
Improved, ACMG‐compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants.
- Published in:
- Human Mutation, 2018, v. 39, n. 8, p. 1061, doi. 10.1002/humu.23553
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- Publication type:
- Article
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
- Published in:
- Human Mutation, 2016, v. 37, n. 7, p. 627, doi. 10.1002/humu.22973
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- Publication type:
- Article
Shotgun Approach to Functional Annotation of Genes.
- Published in:
- 2015
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- Publication type:
- Other
A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 200, doi. 10.1002/humu.22213
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- Publication type:
- Article
Rare germline mutations in PALB2 and breast cancer risk: A population-based study.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 674, doi. 10.1002/humu.22022
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- Publication type:
- Article
Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 22, doi. 10.1002/humu.21629
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- Publication type:
- Article
Comparison of Programs for in silico Assessment of Missense Substitutions.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. v, doi. 10.1002/humu.21532
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- Publication type:
- Article
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 678, doi. 10.1002/humu.21495
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- Publication type:
- Article
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. E1484, doi. 10.1002/humu.21267
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- Publication type:
- Article
Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. 143, doi. 10.1002/humu.21151
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- Publication type:
- Article
Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 884, doi. 10.1002/humu.20949
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- Publication type:
- Article
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 757, doi. 10.1002/humu.20936
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- Publication type:
- Article
Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.
- Published in:
- Human Mutation, 2008, v. 29, n. 11, p. 1342, doi. 10.1002/humu.20896
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- Publication type:
- Article
Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.
- Published in:
- 2008
- By:
- Publication type:
- Other
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.
- Published in:
- Human Mutation, 2008, v. 29, n. 11, p. 1282, doi. 10.1002/humu.20880
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- Publication type:
- Article
In silico analysis of missense substitutions using sequence-alignment based methods.
- Published in:
- Human Mutation, 2008, v. 29, n. 11, p. 1327, doi. 10.1002/humu.20892
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- Publication type:
- Article
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 622, doi. 10.1002/humu.20495
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- Publication type:
- Article